Submissions for variant NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)

dbSNP: rs1775685342

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001312256	SCV001502700	uncertain significance	Peroxisome biogenesis disorder 9B	2022-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 278 of the PEX7 protein (p.Leu278Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1013638). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528456	SCV001740241	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528456	SCV001967536	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001836286	SCV002077254	uncertain significance	Rhizomelic chondrodysplasia punctata	2020-07-17	no assertion criteria provided	clinical testing